Primary dystonia, DYT4 type

What it is

A rare genetic dystonia characterized predominantly by laryngeal dystonia/spasmodic dysphonia, mostly followed by cervical and generalized dystonia. Upper and lower limb dystonia, with the latter leading to a "hobby horse" gait (with toe walking, stiff legs, and a skipping gait), craniofacial and/or oro-pharyngeal dystonia have been reported in some patients. Severity and rate of progression vary among affected individuals ; some patients may have laryngeal or cervical dystonia as a life-long isolated feature, however most patients present with dystonia in other body sites.

Key facts

Prevalence

<1 / 1 000 000

Age of onset

Adolescent, Adult

Inheritance

Autosomal dominant

Classified as

Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Gene

ICD-10 codes

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references